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2020 1
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Page 1
Persistent Flaccid Paralysis in a Patient with Bartter Syndrome.
Krejcova V, David J, Svepes A, Buksakowska I, Kantorova E, Liba Z, Paulas L, Indrakova J, Zieg J. Krejcova V, et al. Among authors: kantorova e. Klin Padiatr. 2023 Sep;235(5):299-301. doi: 10.1055/a-1829-6365. Epub 2023 Feb 27. Klin Padiatr. 2023. PMID: 36848940 English. No abstract available.
Frequency of Leiden Mutation in Newborns with Birth Weight below 1500 g.
Dusek J, Nedvedova L, Scheinost O, Hanzl M, Kantorova E, Fendrstatova E, Sram RJ, Kotouckova H, Voracek J. Dusek J, et al. Among authors: kantorova e. Healthcare (Basel). 2022 May 6;10(5):865. doi: 10.3390/healthcare10050865. Healthcare (Basel). 2022. PMID: 35628002 Free PMC article.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Čopíková J, et al. Among authors: kantorova e. Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19. Ann Hum Genet. 2020. PMID: 32427345
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P, Indrakova J, Savige J, Kuhnova P, Tvrda P, Cerna D, Hilscherova S, Kudrejova M, Polendova D, Jaklova R, Langova M, Jahnova H, Lastuvkova J, Dusek J, Gut J, Vlckova M, Solarova P, Kreckova G, Kantorova E, Soukalova J, Slavkovsky R, Zapletalova J, Tichy T, Thomasova D. Plevova P, et al. Among authors: kantorova e. Front Med (Lausanne). 2023 Feb 8;10:1096869. doi: 10.3389/fmed.2023.1096869. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844206 Free PMC article.